著者
村上 てるみ 西村 敏 舟塚 真 新宅 治夫 一瀬 宏 大澤 眞木子
出版者
東京女子医科大学学会
雑誌
東京女子医科大学雑誌 (ISSN:00409022)
巻号頁・発行日
vol.83, pp.E663-665, 2013-07

瀬川病は14q22.1-q22.2に存在するGTPシクロヒドロラーゼI(GCH1)遺伝子異常に起因する常染色体優性遺伝性ジストニーである。典型例では6歳をピークに下肢姿勢ジストニアで発症し筋固縮の進行は10歳代後半までみられるが以後緩徐になり30歳代では定常状態となる疾患である。日内変動は小児期には著明であるが20歳代後半には徐々に消失することが知られている。多くの患者が症状の日内変動に気づかれず脳性麻痺などの診断を受けている。今回私たちも脳性麻痺と診断を受けていたが問診により症状に日内変動があることに気付き遺伝子検査にて瀬川病と確定診断しL-dopaが著効した1例を経験したので報告する。,症例は17歳女性で 家族歴, 既往歴, 発達歴に特に問題は認めなかった。6歳時に左足の尖足、歩行障害、 姿勢の異常出現、症状の増悪を認めたため当科を受診した。問診にて歩行障害、姿勢の異常には日内変動があることが判明した。 脊髄・頭部MRIでは異常を認めず、臨床症状と日内変動を認めるという問診より瀬川病を疑った。 髄液中のネオプテリン、バイオプテリンの低値と血球中のGTPシクロヒドラーゼI(GCH1)酵素活性低値、さらにGCH1遺伝子異常を認め瀬川病と確定診断した。 L-dopa内服で速やかに完全寛解し10年経過するが副作用なく持続している。診断のきっかけは朝夕での症状の違いを具体的な例をあげて母親に質問したことで症状に日内変動があることがわかった。具体例を挙げての詳細な問診は診断の一助となることを再認識した1例であった。,
著者
中村 かおる Kaoru NAKAMURA
出版者
東京女子医科大学学会
雑誌
東京女子医科大学雑誌 (ISSN:00409022)
巻号頁・発行日
vol.82, no.臨時増刊(堀貞夫教授退任記念), pp.E59-E65, 2012-01-31
著者
藤林 真理子
出版者
東京女子医科大学学会
雑誌
東京女子医科大学雑誌 (ISSN:00409022)
巻号頁・発行日
vol.88, no.6, pp.138-147, 2018-12-25 (Released:2018-12-25)
参考文献数
23

Recent studies have elucidated the pathophysiology of the common placental disorders. It is believed that gestational hypertension, also known as preeclampsia, is a two-stage disease. Inadequate migration of the trophoblasts induces defective remodeling of the uterine spiral arteries. The poorly perfused and re-perfused placenta (Stage 1) produces antiangiogenic factors that cause maternal endothelial dysfunction (Stage 2). It has been hypothesized that a luck of fetomaternal immune tolerance leads to insufficient trophoblastic differentiation.Another placental disorder is chronic villitis or villitis of unknown etiology. The diagnosis of severe chronic villitis is important to the clinician because it causes intrauterine growth restriction, fetal death, and neonatal neurological impairment. These lesions could be of immune origin. It has been reported that the pathogenesis of chronic placentitis is the maternal anti-fetal cellular and antibody-mediated rejection.Disorders of gestational immune tolerance underlie these two placental diorders.
著者
杉本 圭 千葉 幸英 鏑木 陽一郎 金子 裕貴 鶴田 敏久 永田 智
出版者
東京女子医科大学学会
雑誌
東京女子医科大学雑誌 (ISSN:00409022)
巻号頁・発行日
vol.89, no.1, pp.7-12, 2019-02-25 (Released:2019-02-28)
参考文献数
11

A 3-month-old girl was diagnosed with Kawasaki disease 4 days after onset and intravenous immunoglobulin (IVIG) treatment was started on the same day. Because IVIG therapy was ineffective, a combination of IVIG and prednisolone was administered on day 6. On day 9, the patient had hyperkalemia (6.5 mEq/L) without electrocardiographic abnormalities. The serum potassium level measured in blood collected in heparinized tubes was within normal range. We diagnosed pseudohyperkalemia leading to leukocytosis and thrombocythemia, attributable to coagulation system activation and increased release of potassium from leukocytes and/or platelets. Serum potassium levels in patients with potential hyperkalemia under these conditions may require greater consideration.
著者
岩﨑 直子
出版者
東京女子医科大学学会
雑誌
東京女子医科大学雑誌 (ISSN:00409022)
巻号頁・発行日
vol.93, no.5, pp.103-112, 2023-10-25 (Released:2023-10-25)
参考文献数
43

Maturity-onset diabetes of the young (MODY) is the most prevalent form of early onset diabetes patients with caused by a single gene disorder.The number of patients with MODY in Japan is estimated to be more than 12,000. MODY1, MODY2, and MODY3 are the most prevalent types of MODY, and are good indications for precision medicine, which results in improved prognosis and medical cost-effectiveness associated with MODY. We have provided a basis for genetic diagnosis and treatment of MODY using precision medicine. Improving the quality of life in patients with MODY by promoting the use of of precision medicine is an urgent task in Japan.

2 0 0 0 OA (6)炎症とがん

著者
塚原 富士子 丸 義朗
出版者
東京女子医科大学学会
雑誌
東京女子医科大学雑誌 (ISSN:00409022)
巻号頁・発行日
vol.90, no.6, pp.119-125, 2020-12-25 (Released:2020-12-25)
参考文献数
30

Inflammation is a biological defense mechanism, and the immune system plays a central role in recognizing and eliminating external and internal pathogens. However, oxidative stress due to chronic inflammation accumulates DNA mutations and increases the risk of cancer. The immune system can recognize and eliminate immunogenic cancer cells. Inflammation-related molecules, including cytokines and chemokines, not only promote the malignant transformation, but also accumulate immunosuppressive cells, such as M2-like tumor-associated macrophages and myeloid-derived suppressor cells, in the tumor microenvironment. Tumor cells escape immune attack by placing brakes on the immune cell responses. Immune checkpoint inhibitors activate the immune system by releasing the brake. Although immune checkpoint inhibitors have demonstrated significant therapeutic effects in intractable cancers, the therapeutic effects are limited and overcoming drug resistance is a problem. In order to overcome drug resistance, combined immunotherapy, comprising immune checkpoint inhibitors, angiogenesis inhibitors, and chemotherapeutic agents, is required. In this review, we have outlined the relationship between inflammation and cancer, the roles of cytokines, chemokines, immunosuppressive cells, and current progress in using immune checkpoint inhibitors as a therapeutic.
著者
加藤 秀人 柳沢 直子
出版者
東京女子医科大学学会
雑誌
東京女子医科大学雑誌 (ISSN:00409022)
巻号頁・発行日
vol.91, no.1, pp.2-10, 2021-02-25 (Released:2021-03-16)
参考文献数
52

Viruses require host cellular machinery for protein translation and replication. Upon proliferation, virions damage the cells and are released from the infected cells prior to infecting other cells. Acute inflammation is observed when host cells are damaged by infection. Receptors for SARS-CoV-2 on cells are distributed more widely than those specific for other viruses, resulting in a wide range of symptoms such as rhinitis, pneumonia, and enteritis. Typically, RNA viruses, including SARS-CoV-2, demonstrate high frequencies of gene mutations. Antigenic modulation due to genetic mutations in the spike protein causes cytokine storms due to strong activation of the innate immune system. This is similar to the phenomenon previously observed in highly pathogenic avian influenza. The proportion of severely ill patients due to COVID-19 varies from country to country. Factors that are responsible for the severity of the disease include antibody-dependent enhancement (ADE), BCG (Bacille de Calmette et Guérin) vaccination, and HLA (Human leukocyte antigen) type. ADE and HLA types may also contribute to the protective effect during an immune reaction including vaccine response against SARS-CoV-2.
著者
坂元 晴香
出版者
東京女子医科大学学会
雑誌
東京女子医科大学雑誌 (ISSN:00409022)
巻号頁・発行日
vol.92, no.1, pp.20-25, 2022-02-25 (Released:2022-02-25)
参考文献数
15

We have been forced to curtail our social and economic activities for a long time while trying to cope with the coronavirus disease 2019 (COVID-19) pandemic. As a result, the number of suicides in Japan, which had been declining in recent years, has begun to increase again. The increase has been particularly pronounced among young people and women, and this is deeply related to the gender issues that Japanese society faces. For example, women's employment is unstable compared to that of men. Furthermore, women are responsible for most of care-related work such as child care, nursing care, and household work. Single mothers and women working in non-regular employment face a serious situation. There is an urgent need to not only deal with basic infectious diseases but also address the structural gender issues that Japanese society is facing.
著者
中山 健夫
出版者
東京女子医科大学学会
雑誌
東京女子医科大学雑誌 (ISSN:00409022)
巻号頁・発行日
vol.88, no.Extra1, pp.E2-E9, 2018-01-31 (Released:2018-02-28)
参考文献数
39
被引用文献数
2

Clinical practice guidelines (CPGs) are statements including recommendations that assist patients' and practitioners' decision making regarding high priority clinical issues to pursue better clinical outcomes for patients. Based on the body of evidence from systematic reviews, CPGs are developed considering their benefit, harm, and so on. With an increased interest in healthcare among the general public and improved infrastructure of information, the relationship between a patient and a healthcare professional has been rapidly changing. For CPGs to be adequately recognized and for them to play a larger/better role in society, it is necessary to use current best evidence judiciously and to facilitate considerations on multiple aspects including patients' values and ethical, legal, and economic issues. Furthermore, discussions by various players, not limited to healthcare professionals, are essential. Beginning with the brief history of evidence-based medicine, this article presents an overview of the present status and the future perspective of CPGs and associated matters.
著者
満田 年宏
出版者
東京女子医科大学学会
雑誌
東京女子医科大学雑誌 (ISSN:00409022)
巻号頁・発行日
vol.91, no.1, pp.52-58, 2021-02-25 (Released:2021-03-16)
参考文献数
25

Based on the findings obtained so far, this article explains the infection prevention and control for COVID-19, an infectious disease caused by the novel coronavirus (SARS-CoV-2) that originated in Wuhan City, Hubei Province, central China at the end of 2019. To prevent COVID-19 infection, it is important to thoroughly implement droplet- and contact prevention measures. COVID-19 patients are infectious even before the onset of illness, and it is difficult to completely prevent transmission by symptom-based infection prevention measures. In addition to hand hygiene, universal masking and constant eye protection during work are required to prevent occupational infection in healthcare workers. While performing medical procedures that generate aerosols such as tracheal intubation and upper gastrointestinal endoscopy, we need to pay attention to indoor ventilation and respiratory protection using either N95 respirators or powered air-purifying respirators (PAPRs). In the COVID-19 molecular diagnosis by polymerase chain reaction (PCR), the number of days after exposure should be taken into consideration. During the seasonal influenza epidemic, it is necessary to recognize the timing difference between onset and fever. We also need to provide medical care to cases, including cases of combined influenza and COVID-19 infections.
著者
小高 桂子 近藤 侑鈴 横田 小百合 竹下 信啓 川上 和之 林 和彦
出版者
東京女子医科大学学会
雑誌
東京女子医科大学雑誌 (ISSN:00409022)
巻号頁・発行日
vol.88, no.3, pp.81-89, 2018-06-25 (Released:2018-06-25)
参考文献数
24

Our philosophy is to conduct chemotherapy for patients with advanced cancers as safely as possible and to carry out palliative care in parallel. To further promote home palliative care as a medical policy in Japan, we examined how extensively this policy was introduced among terminal patients discharged from our hospital department in the past year. We reviewed the records of deceased discharged patients for one year from Nov. 2015 to Oct. 2016. The total number of hospitalizations was 353, and the number of hospitalized patients was 173. Among all hospitalized cancer patients, 33 patients left hospital mortality, of which 25 were hospitalized urgently. Overall, only 27 % received home palliative care. We were not able to confirm the place of death desired by many of these discharged terminal patients. Therefore, we recommend that terminal cancer patients and their families decide in advance where and when home palliative care should start to maintain high quality of life until the end of life.

2 0 0 0 OA Raynaud症候群

著者
竹宮 敏子 杉下 裕子 伊藤 綾子 立石 紀美子
出版者
東京女子医科大学学会
雑誌
東京女子医科大学雑誌 (ISSN:00409022)
巻号頁・発行日
vol.60, no.12, pp.989-998, 1990-12-25
著者
白戸 由理 中野 和俊 中山 智博 大澤 眞木子
出版者
東京女子医科大学学会
雑誌
東京女子医科大学雑誌 (ISSN:00409022)
巻号頁・発行日
vol.83, pp.E91-97, 2013-01

【目的】,従来ミトコンドリア(Mt)は細胞外では培養不可能とされてきた。中野らはヒトの血小板とHela mitochondria-less (Rh0)を融合させたCybrid細胞を形質変換させ、Mtの性質を保ちながら核のない細胞株の分離・増殖に成功し、ミトコンドリア細胞(MitoCell)と命名した。MitoCellの生物学的特性を見いだすため、エネルギー代謝の検討を行った。,【対象・方法】, MitoCellの嫌気培養は嫌気培養キットでO2濃度を0.1%以下とし、CO2濃度が21%前後、温度は37℃で培養し光学顕微鏡にて観察した。次に、エネルギー代謝経路の検討のため、MitoCellのTCA回路のクエン酸合成酵素(CS)、リンゴ酸脱水素酵素(MDH)、サクシネート脱水素酵素(SDH)、イソクエン酸脱水素酵素(IDH)とピルビン酸脱水素酵素(PD)をウエスタンブロット法により解析した。さらに、MitoCellの電子伝達系酵素(ETE)活性とTCA回路の酵素活性と検討するため、Cybrid細胞を対照としてETEである複合体II+III、IVとCS活性を測定した。,【結果】,MitoCellでは嫌気的環境下でも4週間の観察で生存・増殖が認められた。ウエスタンブロット法ではMitoCellのCSのみが陽性、PD、MDH、IDH、SDHが陰性であった。酵素活性では、MitoCellは複合体II+III、IVの活性は保たれているがCS活性は欠損していた。,【考察】,MitoCellではTCA回路が好気的代謝経路として機能していない可能性が示唆され、嫌気的代謝経路の関与が推測された。MitoCellが真核細胞であるヒト細胞から形質変換したことを考えると、ヒトの核DNAには嫌気的代謝遺伝子が保存されていると推測され、嫌気的代謝経路が賦活化されたとも考えられる。臨床上がん細胞は体内において低酸素下で存在し嫌気的代謝の関与が示唆されている。MitoCellのエネルギー代謝経路の解明は、がん細胞の治療に繋がる可能性が考えられた。,【結論】MitoCellでは嫌気的環境下でも生存・増殖が認められ、低酸素下で存在し嫌気的代謝の関与が示唆されているがん細胞の性質と関連している可能性が示唆された。
著者
川口 洋 伊藤 克己
出版者
東京女子医科大学学会
雑誌
東京女子医科大学雑誌 (ISSN:00409022)
巻号頁・発行日
vol.55, no.10, pp.1026-1026, 1985-11-25

第5回学内免疫談話会 昭和60年7月13日 東京女子医科大学中央校舎1階会議室
著者
高橋 伸子 橋本 和法 佐々木 かりん 橋本 誠司 上田 英梨子 松井 英雄
出版者
東京女子医科大学学会
雑誌
東京女子医科大学雑誌 (ISSN:00409022)
巻号頁・発行日
vol.81, no.3, pp.221-221, 2011-06-25

第40回新都市血栓止血研究会 平成23年3月4日(金) 東京女子医科大学 臨床講堂2
著者
坊内 良太郎 馬場園 哲也 花井 豪 岩本 安彦 Ryotaro BOUCHI Tetsuya BABAZONO Ko HANAI Yasuhiko IWAMOTO
出版者
東京女子医科大学学会
雑誌
東京女子医科大学雑誌 (ISSN:00409022)
巻号頁・発行日
vol.81, no.臨時増刊(岩本安彦教授退任記念特別), pp.E135-E140, 2011-03-31 (Released:2012-08-15)

(医学部内科学(第三)教室岩本安彦教授退任記念特別号)